Canonical Allele Identifier: CA379805129

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17429989A>G (hg19) ; chr11:g.17408442A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17408442A>G , CM000673.2:g.17408442A>G	GRCh38
NC_000011.9:g.17429989A>G , CM000673.1:g.17429989A>G	GRCh37
NC_000011.8:g.17386565A>G	NCBI36
NG_008867.1:g.73461T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2439T>C
ENST00000529967.6:n.1029T>C
ENST00000532220.2:n.502T>C
ENST00000642611.2:n.2839T>C
ENST00000682051.1:n.2786T>C
ENST00000682110.1:n.2839T>C
ENST00000682140.1:c.2767T>C	ENSP00000507829.1:p.Phe923Leu
ENST00000682185.1:n.4075T>C
ENST00000682204.1:c.*908T>C	ENSP00000507094.1:n.*908T>C
ENST00000682215.1:n.2836T>C
ENST00000682288.1:c.*1201T>C	ENSP00000507506.1:n.*1201T>C
ENST00000682442.1:n.2960T>C
ENST00000682528.1:n.2836T>C
ENST00000682673.1:n.2783T>C
ENST00000682805.1:n.2836T>C
ENST00000682965.1:c.2767T>C	ENSP00000508229.1:p.Phe923Leu
ENST00000683093.1:n.2938T>C
ENST00000683136.1:c.2767T>C	ENSP00000507768.1:p.Phe923Leu
ENST00000683153.1:n.2995T>C
ENST00000683365.1:n.2941T>C
ENST00000683377.1:n.2839T>C
ENST00000683456.1:c.2770T>C	ENSP00000508318.1:p.Phe924Leu
ENST00000683522.1:n.2839T>C
ENST00000683562.1:c.*939T>C	ENSP00000508265.1:n.*939T>C
ENST00000683693.1:n.2836T>C
ENST00000683725.1:c.2770T>C	ENSP00000507496.1:p.Phe924Leu
ENST00000684010.1:n.2754T>C
ENST00000684157.1:n.2839T>C
ENST00000684253.1:n.2742T>C
ENST00000684288.1:c.*942T>C	ENSP00000507143.1:n.*942T>C
ENST00000684313.1:n.2271T>C
ENST00000684332.1:n.2912T>C
ENST00000684371.1:n.2945T>C
ENST00000684404.1:n.2836T>C
ENST00000684442.1:n.2839T>C
ENST00000684555.1:c.*982T>C	ENSP00000507705.1:n.*982T>C
ENST00000684571.1:c.2611T>C	ENSP00000506935.1:p.Phe871Leu
ENST00000684593.1:c.*2475T>C	ENSP00000507005.1:n.*2475T>C
ENST00000684711.1:c.*1166T>C	ENSP00000506841.1:n.*1166T>C
ENST00000302539.9:c.2773T>C	ENSP00000303960.4:p.Phe925Leu
ENST00000389817.8:c.2770T>C MANE Select	ENSP00000374467.4:p.Phe924Leu
ENST00000642271.1:c.2767T>C	ENSP00000493749.1:p.Phe923Leu
ENST00000642579.1:c.854T>C
ENST00000642611.1:n.2724T>C
ENST00000642902.1:c.2605T>C
ENST00000643260.1:c.2770T>C	ENSP00000494450.1:p.Phe924Leu
ENST00000643562.1:c.*746T>C	ENSP00000496124.1:n.*746T>C
ENST00000643925.1:c.814T>C
ENST00000644447.1:c.1126T>C	ENSP00000496282.1:p.Phe376Leu
ENST00000644472.1:c.*1131T>C	ENSP00000495378.1:n.*1131T>C
ENST00000644484.1:c.*979T>C	ENSP00000493558.1:n.*979T>C
ENST00000644542.1:c.*2475T>C	ENSP00000495532.1:n.*2475T>C
ENST00000644675.1:c.*942T>C	ENSP00000494567.1:n.*942T>C
ENST00000644757.1:c.*1075T>C	ENSP00000495085.1:n.*1075T>C
ENST00000644772.1:c.2836T>C	ENSP00000494321.1:p.Phe946Leu
ENST00000645076.1:c.2022T>C
ENST00000645744.1:c.*1134T>C	ENSP00000494564.1:n.*1134T>C
ENST00000645760.1:c.3045T>C
ENST00000645884.1:c.2770T>C	ENSP00000495516.1:p.Phe924Leu
ENST00000646003.1:c.*826T>C	ENSP00000495259.1:n.*826T>C
ENST00000646207.1:c.*1134T>C	ENSP00000495025.1:n.*1134T>C
ENST00000646276.1:c.*1043T>C	ENSP00000496070.1:n.*1043T>C
ENST00000646592.1:c.1996T>C
ENST00000646902.1:c.2767T>C	ENSP00000494101.1:p.Phe923Leu
ENST00000646993.1:c.*1166T>C	ENSP00000493720.1:n.*1166T>C
ENST00000647013.1:c.2776T>C	ENSP00000496741.1:n.2776T>C
ENST00000647015.1:c.2521T>C	ENSP00000495389.1:p.Phe841Leu
ENST00000647086.1:c.*2500T>C	ENSP00000493677.1:n.*2500T>C
ENST00000647158.1:c.*911T>C	ENSP00000495744.1:n.*911T>C
ENST00000302539.8:c.2773T>C	ENSP00000303960.4:p.Phe925Leu
ENST00000389817.7:c.2770T>C	ENSP00000374467.3:p.Phe924Leu
ENST00000526921.5:n.454T>C
ENST00000527905.5:c.2740T>C	ENSP00000431653.1:p.Phe914Leu
ENST00000529967.5:n.439T>C
NM_000352.4:c.2770T>C	NP_000343.2:p.Phe924Leu
NM_001287174.1:c.2773T>C	NP_001274103.1:p.Phe925Leu
XM_011520331.1:c.2770T>C	XP_011518633.1:p.Phe924Leu
XM_011520332.1:c.2773T>C	XP_011518634.1:p.Phe925Leu
XM_011520333.1:c.1270T>C	XP_011518635.1:p.Phe424Leu
XM_011520334.1:c.2773T>C	XP_011518636.1:p.Phe925Leu
XR_930890.1:n.2836T>C
XR_930891.1:n.2836T>C
XR_930892.1:n.2836T>C
XR_930893.1:n.2833T>C
NM_001351295.1:c.2836T>C	NP_001338224.1:p.Phe946Leu
NM_001351296.1:c.2770T>C	NP_001338225.1:p.Phe924Leu
NM_001351297.1:c.2767T>C	NP_001338226.1:p.Phe923Leu
NR_147094.1:n.2839T>C
XM_017018197.2:c.2839T>C	XP_016873686.1:p.Phe947Leu
XM_017018199.1:c.2836T>C	XP_016873688.1:p.Phe946Leu
XM_017018201.2:c.2839T>C	XP_016873690.1:p.Phe947Leu
XM_017018202.1:c.1336T>C	XP_016873691.1:p.Phe446Leu
XM_017018204.1:c.727T>C	XP_016873693.1:p.Phe243Leu
XM_024448668.1:c.1138T>C	XP_024304436.1:p.Phe380Leu
XR_001747945.2:n.2911T>C
XR_001747946.2:n.2842T>C
XR_002957189.1:n.2911T>C
NM_000352.6:c.2770T>C MANE Select	NP_000343.2:p.Phe924Leu
NM_001287174.2:c.2773T>C	NP_001274103.1:p.Phe925Leu
NM_001351295.2:c.2836T>C	NP_001338224.1:p.Phe946Leu
NM_001351296.2:c.2770T>C	NP_001338225.1:p.Phe924Leu
NM_001351297.2:c.2767T>C	NP_001338226.1:p.Phe923Leu
NR_147094.2:n.2839T>C
NM_001287174.3:c.2773T>C	NP_001274103.1:p.Phe925Leu